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A monozygotic twin pair with highly discordant Gaucher phenotypes
We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any sympto...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2010
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3352676/ https://ncbi.nlm.nih.gov/pubmed/21056933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2010.10.007 |
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